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Q9NTJ4

- MA2C1_HUMAN

UniProt

Q9NTJ4 - MA2C1_HUMAN

Protein

Alpha-mannosidase 2C1

Gene

MAN2C1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.

    Cofactori

    Binds 1 zinc ion per subunit.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi260 – 2601ZincBy similarity
    Metal bindingi262 – 2621ZincBy similarity
    Active sitei372 – 3721NucleophileBy similarity
    Metal bindingi372 – 3721ZincBy similarity
    Metal bindingi577 – 5771ZincBy similarity

    GO - Molecular functioni

    1. alpha-mannosidase activity Source: UniProtKB-EC
    2. carbohydrate binding Source: InterPro
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. mannose metabolic process Source: InterPro

    Keywords - Molecular functioni

    Glycosidase, Hydrolase

    Keywords - Ligandi

    Metal-binding, Zinc

    Protein family/group databases

    CAZyiGH38. Glycoside Hydrolase Family 38.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-mannosidase 2C1 (EC:3.2.1.24)
    Alternative name(s):
    Alpha mannosidase 6A8B
    Alpha-D-mannoside mannohydrolase
    Mannosidase alpha class 2C member 1
    Gene namesi
    Name:MAN2C1
    Synonyms:MANA, MANA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:6827. MAN2C1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30576.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10401040Alpha-mannosidase 2C1PRO_0000206907Add
    BLAST

    Proteomic databases

    MaxQBiQ9NTJ4.
    PaxDbiQ9NTJ4.
    PRIDEiQ9NTJ4.

    PTM databases

    PhosphoSiteiQ9NTJ4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NTJ4.
    BgeeiQ9NTJ4.
    CleanExiHS_MAN2C1.
    GenevestigatoriQ9NTJ4.

    Organism-specific databases

    HPAiHPA040627.

    Interactioni

    Protein-protein interaction databases

    BioGridi110296. 5 interactions.
    IntActiQ9NTJ4. 1 interaction.
    MINTiMINT-1035933.
    STRINGi9606.ENSP00000267978.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NTJ4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyl hydrolase 38 family.Curated

    Phylogenomic databases

    eggNOGiCOG0383.
    HOGENOMiHOG000048425.
    HOVERGENiHBG055567.
    InParanoidiQ9NTJ4.
    KOiK01191.
    OMAiCHMAPSE.
    OrthoDBiEOG78M015.
    PhylomeDBiQ9NTJ4.
    TreeFamiTF300335.

    Family and domain databases

    Gene3Di1.20.1270.50. 1 hit.
    3.20.110.10. 1 hit.
    InterProiIPR011013. Gal_mutarotase_SF_dom.
    IPR011330. Glyco_hydro/deAcase_b/a-brl.
    IPR027291. Glyco_hydro_38/57_N.
    IPR011682. Glyco_hydro_38_C.
    IPR015341. Glyco_hydro_38_cen.
    IPR000602. Glyco_hydro_38_N.
    IPR028995. Glyco_hydro_57/38_cen.
    [Graphical view]
    PfamiPF09261. Alpha-mann_mid. 1 hit.
    PF01074. Glyco_hydro_38. 1 hit.
    PF07748. Glyco_hydro_38C. 1 hit.
    [Graphical view]
    SMARTiSM00872. Alpha-mann_mid. 1 hit.
    [Graphical view]
    SUPFAMiSSF74650. SSF74650. 1 hit.
    SSF88688. SSF88688. 1 hit.
    SSF88713. SSF88713. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NTJ4-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT     50
    PERLPYQEAV QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC 100
    WESDGEGLVW RDGEPVQGLT KEGEKTSYVL TDRLGERDPR SLTLYVEVAC 150
    NGLLGAGKGS MIAAPDPEKM FQLSRAELAV FHRDVHMLLV DLELLLGIAK 200
    GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR FFGQHGGESQ 250
    HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA 300
    QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF 350
    LQGQNFFLQE FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN 400
    LVNSFPHHTF FWEGLDGSRV LVHFPPGDSY GMQGSVEEVL KTVANNRDKG 450
    RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS NTDGLPRVQL SSPRQLFSAL 500
    ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL HDVELLSSLA 550
    LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR 600
    SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA 650
    LVTVPSMGYA PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP 700
    TGRLTSLVLV ASGREAIAEG AVGNQFVLFD DVPLYWDAWD VMDYHLETRK 750
    PVLGQAGTLA VGTEGGLRGS AWFLLQISPN SRLSQEVVLD VGCPYVRFHT 800
    EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN TSWDWARFEV 850
    WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG 900
    RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV 950
    SSPAVVLETV KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC 1000
    DLLERPDPAG HLTLRDNRLK LTFSPFQVLS LLLVLQPPPH 1040
    Length:1,040
    Mass (Da):115,835
    Last modified:October 1, 2000 - v1
    Checksum:i2B40AE6E03AC1E3C
    GO
    Isoform 2 (identifier: Q9NTJ4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         913-935: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,017
    Mass (Da):113,461
    Checksum:i90AFFF46F25F5294
    GO
    Isoform 3 (identifier: Q9NTJ4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         201-299: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:941
    Mass (Da):104,690
    Checksum:iF2AB8C70108FB535
    GO
    Isoform 4 (identifier: Q9NTJ4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         650-682: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSA...DSASRPPPTK

    Note: Gene prediction based on EST data.

    Show »
    Length:1,057
    Mass (Da):117,187
    Checksum:iD2F034EDEC3EB019
    GO

    Sequence cautioni

    The sequence AAC00190.2 differs from that shown. Reason: Frameshift at position 1013.
    The sequence AAC00568.1 differs from that shown. Reason: Frameshift at position 1013.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti6 – 61A → F in AAC00190. 1 PublicationCurated
    Sequence conflicti14 – 141L → F in AAC00190. 1 PublicationCurated
    Sequence conflicti24 – 241L → I in AAC00190. 1 PublicationCurated
    Sequence conflicti170 – 1701M → I in AAC00190. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti323 – 3231R → C.1 Publication
    Corresponds to variant rs200595616 [ dbSNP | Ensembl ].
    VAR_069180
    Natural varianti818 – 8181R → H.
    Corresponds to variant rs58557444 [ dbSNP | Ensembl ].
    VAR_061192
    Natural varianti950 – 9501V → M.
    Corresponds to variant rs3803467 [ dbSNP | Ensembl ].
    VAR_049211
    Natural varianti960 – 9601V → I.1 Publication
    Corresponds to variant rs3803466 [ dbSNP | Ensembl ].
    VAR_021914
    Natural varianti975 – 9751R → K.
    Corresponds to variant rs5745934 [ dbSNP | Ensembl ].
    VAR_049212

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei201 – 29999Missing in isoform 3. 1 PublicationVSP_046395Add
    BLAST
    Alternative sequencei650 – 68233ALVTV…FVVQE → GLTPSPGDSAQHGLCSCSSP HLTAAPAAPAACVRSARAPT DSASRPPPTK in isoform 4. CuratedVSP_046895Add
    BLAST
    Alternative sequencei913 – 93523Missing in isoform 2. 1 PublicationVSP_046375Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF044414 mRNA. Translation: AAC00190.2. Frameshift.
    AL136876 mRNA. Translation: CAB66810.1.
    AK225145 mRNA. No translation available.
    AC068338 Genomic DNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99253.1.
    BC050550 mRNA. Translation: AAH50550.1.
    BC080191 mRNA. Translation: AAH80191.1.
    U37248 mRNA. Translation: AAC00568.1. Sequence problems.
    CCDSiCCDS32298.1. [Q9NTJ4-1]
    CCDS58389.1. [Q9NTJ4-3]
    CCDS58390.1. [Q9NTJ4-2]
    CCDS58391.1. [Q9NTJ4-4]
    PIRiT46931.
    RefSeqiNP_001243423.1. NM_001256494.1. [Q9NTJ4-4]
    NP_001243424.1. NM_001256495.1. [Q9NTJ4-2]
    NP_001243425.1. NM_001256496.1. [Q9NTJ4-3]
    NP_006706.2. NM_006715.3. [Q9NTJ4-1]
    UniGeneiHs.26232.
    Hs.598731.

    Genome annotation databases

    EnsembliENST00000267978; ENSP00000267978; ENSG00000140400. [Q9NTJ4-1]
    ENST00000563622; ENSP00000454589; ENSG00000140400. [Q9NTJ4-3]
    ENST00000565683; ENSP00000457788; ENSG00000140400. [Q9NTJ4-4]
    ENST00000569482; ENSP00000455998; ENSG00000140400. [Q9NTJ4-2]
    GeneIDi4123.
    KEGGihsa:4123.
    UCSCiuc002baf.4. human. [Q9NTJ4-1]
    uc002bah.4. human.

    Polymorphism databases

    DMDMi27923805.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF044414 mRNA. Translation: AAC00190.2 . Frameshift.
    AL136876 mRNA. Translation: CAB66810.1 .
    AK225145 mRNA. No translation available.
    AC068338 Genomic DNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99253.1 .
    BC050550 mRNA. Translation: AAH50550.1 .
    BC080191 mRNA. Translation: AAH80191.1 .
    U37248 mRNA. Translation: AAC00568.1 . Sequence problems.
    CCDSi CCDS32298.1. [Q9NTJ4-1 ]
    CCDS58389.1. [Q9NTJ4-3 ]
    CCDS58390.1. [Q9NTJ4-2 ]
    CCDS58391.1. [Q9NTJ4-4 ]
    PIRi T46931.
    RefSeqi NP_001243423.1. NM_001256494.1. [Q9NTJ4-4 ]
    NP_001243424.1. NM_001256495.1. [Q9NTJ4-2 ]
    NP_001243425.1. NM_001256496.1. [Q9NTJ4-3 ]
    NP_006706.2. NM_006715.3. [Q9NTJ4-1 ]
    UniGenei Hs.26232.
    Hs.598731.

    3D structure databases

    ProteinModelPortali Q9NTJ4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110296. 5 interactions.
    IntActi Q9NTJ4. 1 interaction.
    MINTi MINT-1035933.
    STRINGi 9606.ENSP00000267978.

    Protein family/group databases

    CAZyi GH38. Glycoside Hydrolase Family 38.

    PTM databases

    PhosphoSitei Q9NTJ4.

    Polymorphism databases

    DMDMi 27923805.

    Proteomic databases

    MaxQBi Q9NTJ4.
    PaxDbi Q9NTJ4.
    PRIDEi Q9NTJ4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000267978 ; ENSP00000267978 ; ENSG00000140400 . [Q9NTJ4-1 ]
    ENST00000563622 ; ENSP00000454589 ; ENSG00000140400 . [Q9NTJ4-3 ]
    ENST00000565683 ; ENSP00000457788 ; ENSG00000140400 . [Q9NTJ4-4 ]
    ENST00000569482 ; ENSP00000455998 ; ENSG00000140400 . [Q9NTJ4-2 ]
    GeneIDi 4123.
    KEGGi hsa:4123.
    UCSCi uc002baf.4. human. [Q9NTJ4-1 ]
    uc002bah.4. human.

    Organism-specific databases

    CTDi 4123.
    GeneCardsi GC15M075648.
    HGNCi HGNC:6827. MAN2C1.
    HPAi HPA040627.
    MIMi 154580. gene.
    neXtProti NX_Q9NTJ4.
    PharmGKBi PA30576.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0383.
    HOGENOMi HOG000048425.
    HOVERGENi HBG055567.
    InParanoidi Q9NTJ4.
    KOi K01191.
    OMAi CHMAPSE.
    OrthoDBi EOG78M015.
    PhylomeDBi Q9NTJ4.
    TreeFami TF300335.

    Miscellaneous databases

    ChiTaRSi MAN2C1. human.
    GenomeRNAii 4123.
    NextBioi 16188.
    PROi Q9NTJ4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NTJ4.
    Bgeei Q9NTJ4.
    CleanExi HS_MAN2C1.
    Genevestigatori Q9NTJ4.

    Family and domain databases

    Gene3Di 1.20.1270.50. 1 hit.
    3.20.110.10. 1 hit.
    InterProi IPR011013. Gal_mutarotase_SF_dom.
    IPR011330. Glyco_hydro/deAcase_b/a-brl.
    IPR027291. Glyco_hydro_38/57_N.
    IPR011682. Glyco_hydro_38_C.
    IPR015341. Glyco_hydro_38_cen.
    IPR000602. Glyco_hydro_38_N.
    IPR028995. Glyco_hydro_57/38_cen.
    [Graphical view ]
    Pfami PF09261. Alpha-mann_mid. 1 hit.
    PF01074. Glyco_hydro_38. 1 hit.
    PF07748. Glyco_hydro_38C. 1 hit.
    [Graphical view ]
    SMARTi SM00872. Alpha-mann_mid. 1 hit.
    [Graphical view ]
    SUPFAMi SSF74650. SSF74650. 1 hit.
    SSF88688. SSF88688. 1 hit.
    SSF88713. SSF88713. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a human full-length cDNA encoding an alpha-mannosidase."
      Li B., Ma F.-R., Shi G.-X., Zhao F.-T., Li J., Li L., Wang Y., Cai Y.-Y., Zhu L.-P.
      Ji Chu Yi Xue Yu Lin Chuang 19:409-415(1999)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-960.
      Tissue: Cerebellum.
    4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-323.
      Tissue: Skin and Uterus.
    7. "Cloning of a human cDNA homologous to the cDNA encoding a rat ER alpha-mannosidase."
      Zhang L.-X., Zhu L.-P., Shi W., Ma F.-R.
      Zhonghua Wei Sheng Wu Xue He Mian Yi Xue Za Zhi 17:34-39(1997)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 630-1040 (ISOFORM 1).
      Tissue: Tonsil.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMA2C1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NTJ4
    Secondary accession number(s): H3BMX2
    , H3BQY8, H3BUT6, Q13358, Q68EM8, Q9UL64
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 27, 2003
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Glycosyl hydrolases
      Classification of glycosyl hydrolase families and list of entries
    2. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3